Gene Variant Detail

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Gene CBL
Variant Y274F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CBL Y274F lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). Y274F does not impair E3 ubiquitin ligase activity and demonstrates similar levels of Egfr ubiquitination compared to wild-type Cbl in cell culture (PMID: 10635327), however, results in reduced binding to Spry2, Spry4, Egfr, and Met (PMID: 18273061) and therefore, its effect on Cbl protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL Y274F

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Transcript NM_005188.4
gDNA chr11:g.119274905A>T
cDNA c.821A>T
Protein p.Y274F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.3 chr11:g.119274905A>T c.821A>T p.Y274F RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119274905A>T c.821A>T p.Y274F RefSeq GRCh38/hg38
XM_011543057 chr11:g.119274905A>T c.821A>T p.Y274F RefSeq GRCh38/hg38
NM_005188 chr11:g.119274905A>T c.821A>T p.Y274F RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References